Syllabus
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Course Code: B-BTY -504 Course Name: Medical Biotechnology-I |
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| MODULE NO / UNIT | COURSE SYLLABUS CONTENTS OF MODULE | NOTES |
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| 1 | Chromosomal disorders – Numerical disorders e.g. trisomies&monosomies,
Structural disorders e.g. deletions, duplications, translocations & inversions,
Chromosomal instability syndromes. Gene controlled diseases – Autosomal and Xlinked disorders, Mitochondrial disorders and Multifactorial conditions. Identification
of disease genes, Functional cloning –Eg. haemophilia gene. Positional cloning - eg.
DMD and CGD genes. Candidate gene approach – Eg. Marfan’s syndrome,
Alzeimer’s disease Molecular basis of human diseases - Pathogenic mutations. Gain of function mutations: Oncogenes, Huntingtons Disease, Pittsburg variant of alpha 1 antitrypsin. Loss of function - Tumour Suppressor Genes, PAX- 3 gene; Gene Dosage Effect - PMP22 , Collagen gene; Genomic Imprinting -Mechanisms, Praderwilli / Angelman syndrome, WAGR syndrome, Beckwith Weidemann Syndrome. Immuno Pathology, Hepatitis, HIV, Autoimmune Disorders-SLE, RA |
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| 2 | Prenatal diagnosis - Invasive techniques - Amniocentesis, Fetoscopy, Chorionic Villi
Sampling (CVS), Non-invasive techniques - Ultrasonography, X-ray, TIFA, maternal
serum and fetal cells in maternal blood; Diagnosis using protein and enzyme markers, monoclonal antibodies. DNA/RNA based diagnosis Hepatitis, CML – bcr/abl, HIV - CD 4 receptor; Microarray technology- genomic and c DNA arrays, application to diseases. |
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